A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17234034



Internal ID21681543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:18870854..18870854hg38UCSC Ensembl
chr13:19444994..19444994hg19UCSC Ensembl
Cytoband13q11
Allele length
AssemblyAllele length
hg38387
hg19387
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5727084
Supporting Variants
Samples
Known GenesANKRD20A9P
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17234034
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer